Evaluating thyroid function and structure in patients with RASopathy
Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
This study is testing how common thyroid problems are in young people with RASopathy to see if their condition affects thyroid health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 115 (estimated) |
| Ages | 3 Years to 25 Years |
| Sex | All |
| Sponsor | University of Bari Aldo Moro Academic / other |
| Drugs / interventions | radiation |
| Locations | 1 site (Bari) |
| Trial ID | NCT06489067 on ClinicalTrials.gov |
What this trial studies
This observational study aims to assess the prevalence of thyroid diseases, particularly those with autoimmune origins, in patients diagnosed with RASopathy through genetic testing. Participants aged 3 to 25 will undergo blood tests to evaluate thyroid function and autoimmunity, as well as bone metabolism markers. Additionally, a color Doppler ultrasound will be performed to examine the thyroid gland's morphology and structure, including the presence of nodules and lymphadenopathy. The findings will be compared to data from the general population to understand the impact of RASopathy on thyroid health.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 3 to 25 with genetically confirmed RASopathy.
Not a fit: Patients with previous radiotherapy treatments or known exposure to ionizing radiation may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of thyroid conditions in patients with RASopathy.
How similar studies have performed: While there may be studies on thyroid function in other conditions, this specific focus on RASopathy and its association with thyroid abnormalities is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Genetically confirmed RASopathy * Age 3-25 years Exclusion Criteria: * Previous radiotherapy treatments, known exposure to ionizing radiation * Iodine deficiency * Use of iodine-based compounds or drugs that interfere with thyroid function * Congenital hypothyroidism/hyperthyroidism * Severe obesity with metabolic complications
Where this trial is running
Bari
- University of Bari — Bari, Italy (Recruiting)
Study contacts
- Principal investigator: Maria Felicia Faienza, Md — University of Bari
- Study coordinator: Maria Felicia Faienza
- Email: mariafelicia.faienza@uniba.it
- Phone: +393687667438
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.